A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670293



Internal ID9936398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37418531..37422572hg38UCSC Ensembl
Outerchr17:37418060..37422992hg38UCSC Ensembl
Innerchr17:35778616..35782672hg19UCSC Ensembl
Outerchr17:35778145..35783092hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384933
hg194948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv549e199
Supporting Variantsessv6329159, essv5720211, essv5913436, essv5501060, essv5699183, essv6254707, essv5884499, essv5632864, essv6474095, essv5516534, essv5683525, essv5927370, essv5477559, essv5820763, essv5440660, essv5694058, essv5980361, essv6391170, essv6385539, essv6048727, essv5424371, essv5938579, essv6468966, essv5763531, essv5990847, essv5854092, essv6237468, essv6241137, essv5794517, essv6088032, essv6300535, essv6051946, essv6556224, essv6577728, essv6277814, essv5739427, essv6275275, essv5538048, essv6577854, essv5989874, essv5506533, essv6037619, essv5664780, essv5412599, essv6525976, essv5874064, essv5981011, essv5671165, essv6044411, essv5509030, essv6318862, essv5711784, essv6165791, essv6467533, essv6133189, essv5595169, essv6514081
SamplesNA20761, NA20543, NA20508, NA18592, NA20531, NA20802, NA18596, NA20808, NA20507, NA18597, NA20589, NA18595, NA18619, NA18574, NA20541, NA18611, NA20759, NA18617, NA20811, NA20533, NA20515, NA20818, NA18614, NA18613, NA18538, NA20809, NA20810, NA20536, NA18637, NA20506, NA18579, NA18572, NA18534, NA20525, NA18626, NA18570, NA18634, NA18593, NA18632, NA20522, NA18542, NA20801, NA18535, NA18564, NA20530, NA20544, NA20516, NA20797, NA20582, NA20510, NA18636, NA20786, NA20758, NA20528, NA20503, NA18577, NA18620
Known GenesTADA2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670293
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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